SLC33A1

The encoded protein is required for the formation of O-acetylated (Ac) gangliosides. It is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Studies indicate that the protein is localized to the cytoplasm. [provided by RefSeq]

Full Name

solute carrier family 33 (acetyl-CoA transporter), member 1

Function

Probable acetyl-CoA transporter necessary for O-acetylation of gangliosides (PubMed:9096318).
Negatively regulates BMP signaling (PubMed:25402622).

Biological Process

Transmembrane transportTAS:Reactome

Cellular Location

Endoplasmic reticulum membrane

Involvement in disease

Spastic paraplegia 42, autosomal dominant (SPG42):
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
Congenital cataracts, hearing loss, and neurodegeneration (CCHLND):
An autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination.